Research Information System
CLINICAL RHEUMATOLOGY, vol.44, no.12, pp.5143-5154, 2025 (SCI-Expanded, Scopus)
Autoinflammatory diseases encompass a group of inherited disorders characterized by genetic defects in innate immunity and leading to uncontrolled systemic or organ-specific inflammation. While familial Mediterranean fever is a common example prevalent in Mediterranean regions, autoinflammatory phospholipase C gamma 2 (PLCG2)-associated antibody deficiency and immune dysregulation (APLAID) is extremely rare. We present a 36-year-old male patient with recurrent pustular eruptions who was on colchicine treatment for FMF. Genetic analysis revealed a heterozygous c.2120C > A (Ser707Tyr) mutation in the PLCG2 gene. Daily anakinra 100 mg therapy provided long-term control on skin eruptions. A case-based review following CaBArET guidelines was conducted using Medline/PubMed and Scopus databases and identified 30 cases of APLAID to review the clinical manifestations and treatment approaches of APLAID. No phenotype-genotype association has been established and treatment outcomes of APLAID patients are variable. Our case highlights reconsidering the diagnosis of a patient with persistent and atypical inflammatory manifestations even if he has a diagnosis of an autoinflammatory disorder. Although treatment responses to anakinra reported in the literature are scarce and highly variable, our observations demonstrated that anakinra seems to be a promising agent, especially for recurrent pustular eruptions of APLAID.